Search on: GONADAL DYSGENESIS, XO 
Descriptors Found: 1
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Descriptor English:   Turner Syndrome 
Descriptor Spanish:   Síndrome de Turner 
Descriptor Portuguese:   Síndrome de Turner 
Synonyms English:   Bonnevie-Ullrich Syndrome
Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, XO  
Tree Number:   C12.706.316.309.872
C12.706.316.795.750
C13.351.875.253.309.872
C13.351.875.253.795.750
C14.240.400.980
C14.280.400.980
C16.131.240.400.970
C16.131.260.830.835.750
C16.131.939.316.309.872
C16.131.939.316.795.750
C16.320.180.830.835.750
C19.391.119.309.872
C19.391.119.795.750
Definition English:   A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. 
Indexing Annotation English:   in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available
See Related English:   Noonan Syndrome
 
History Note English:   2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   14823 
Unique Identifier:   D014424 

Occurrence in VHL:
 

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